Exploring the epigenetic rewiring associated to RLF mutations as a driver of intellectual disability

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2021

Mutations in a gene called RLF have been recently identified in patients with intellectual disability, and behavioral alterations. The functions of the gene and related protein are poorly known, thus therapeutic options are still missing. In this project, we propose to generate coherent experimental models (human origin, patients’ mutations, neural cells) for studying the physiological role of RLF and its impairment that are at the basis of the human pathology. By doing this I expect to gain knowledge to foster the development of clinically relevant therapies for RLF patients.